Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27522505C>T , CM000664.2:g.27522505C>T | GRCh38 |
| NC_000002.11:g.27745372C>T , CM000664.1:g.27745372C>T | GRCh37 |
| NC_000002.10:g.27598876C>T | NCBI36 |
| NG_028024.1:g.30667C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001486.4:c.1618C>T MANE Select | NP_001477.2:p.Arg540Ter |
| ENST00000264717.7:c.1618C>T MANE Select | ENSP00000264717.2:p.Arg540Ter |
| NM_001486.3:c.1618C>T | NP_001477.2:p.Arg540Ter |
| ENST00000264717.6:c.1618C>T | ENSP00000264717.2:p.Arg540Ter |
| XM_011532761.1:c.1465C>T | XP_011531063.1:p.Arg489Ter |
| XM_011532762.1:c.1048C>T | XP_011531064.1:p.Arg350Ter |
| XM_017003796.1:c.1048C>T | XP_016859285.1:p.Arg350Ter |
| XM_017003797.1:c.1048C>T | XP_016859286.1:p.Arg350Ter |